Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1982073 0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs763110 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 30
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 21
rs3213245 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 13
rs3731217 0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs1799801 0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25 9
rs11801299 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 9